Short summary

Congenital malformations constitute a considerable problem in the Danish healthcare system.
In 2004, the Danish Health and Medicines Authority introduced new national guidelines for prenatal counseling and diagnostics. All pregnant women are offered a risk assessment for trisomy 21 and a scan of malformations. Implementation of the new national guidelines led to an increased detection rate of fetuses with Down syndrome. It has not been possible to show the same tendency for the malformation scan in Denmark. Thus, the main aim of the study is to evaluate the impact of the malformation scan in a cohort in the Region of Southern Denmark.

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Rationale

Background:

Congenital malformations constitute a considerable problem in the Danish healthcare system of both ethical and economic character.
In 2004, the Danish Health and Medicines Authority introduced new national guidelines for prenatal counseling and diagnostics. All pregnant women are offered a risk assessment for trisomy 21 and a scan of fetal malformations.

The establishment of Føtodatabasen (Danish database in fetal medicine) in 2008 showed that the new guidelines led to 90% of fetuses with Down syndrome were diagnosed in pregnancy. It has not been possible to obtain valid data for the malformation scan. Thus, it has not been possible to evaluate the impact of the malformation scan in Denmark.

Aim:

The study is an evaluation of congenital malformations detected by ultrasound from gestational age 11+3 to 21+5 in the Region of Southern Denmark.

Including:

To estimate the prenatal detection rate of severe congenital malformations.

To estimate the number of pregnant women that did not accept the offer of an ultrasound examination and elucidate the cause of missing examination.

To describe the patient pathway after prenatal diagnosis of severe congenital malformations.

This observational cohort study will elucidate how many malformations the hospitals in the Region of Southern Denmark are able to detect prenatally and if this corresponds with the expected number made by the Danish Health and Medicines Authority. The study will also elucidate the number of women who did not receive a malformation scan and the cause of the missing examination. Furthermore the study will describe the patient pathway after prenatal diagnosis of severe congenital malformations. This study can contribute to identification of areas in the malformation scan program needing improvement and thus to a higher number of children with congenital malformations to be diagnosed in pregnancy. Multiple studies show that quality of life in children with malformations is improved if they receive the optimal treatment immediately after birth. Prerequisite for this is that the malformation is diagnosed in pregnancy.

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Description of the cohort

The study cohort consists of fetuses and their mothers in the Region of Southern Denmark from 1 March 2013 to 1 October 2016.

Data and biological material

Data is collected from astraia (national clinical ultrasound database), discharge and out-patient diagnosis from pediatric and obstetric departments and service codes from the obstetric departments in the Region of Southern Denmark.  Data will be validated through thorough review of medical records. Data will be stored in Share-Point and REDCap. Stata is used for statistical analysis and purification of data.

Collaborating researchers and departments

Department of Gynaecology and Obstetrics, Odense University Hospital

• PhD-student Karina Hjort-Pedersen
• Consultant Lene Sperling, PhD

Department of Gynaecology and Obstetrics, Lillebaelt Hospital, Kolding

• Consultant Annette Wind Olesen, PhD
• Consultant Ester Garne, PhD